Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1994 1
1996 1
1997 1
2003 1
2010 1
2011 2
2012 4
2016 1
2017 2
2019 1
2020 1
2021 1
2023 3
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

17 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Intellectual disability, X-linked 81"
Page 1
Fragile X and X-linked intellectual disability: four decades of discovery.
Lubs HA, Stevenson RE, Schwartz CE. Lubs HA, et al. Am J Hum Genet. 2012 Apr 6;90(4):579-90. doi: 10.1016/j.ajhg.2012.02.018. Am J Hum Genet. 2012. PMID: 22482801 Free PMC article. Review.
X-Linked intellectual disability (XLID) accounts for 5%-10% of intellectual disability in males. ...A large number of families with nonsyndromal XLID, 95 of which have been regionally mapped, have been described as well. Mutations in 102 …
X-Linked intellectual disability (XLID) accounts for 5%-10% of intellectual disability in males. . …
Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from India.
Nagarajan B, Gowda VK, Yoganathan S, Sharawat IK, Srivastava K, Vora N, Badheka R, Danda S, Kalane U, Kaur A, Madaan P, Mehta S, Negi S, Panda PK, Rajadhyaksha S, Saini AG, Saini L, Shah S, Srinivasan VM, Suthar R, Thomas M, Vyas S, Sankhyan N, Sahu JK. Nagarajan B, et al. Epilepsia Open. 2023 Dec;8(4):1383-1404. doi: 10.1002/epi4.12811. Epub 2023 Aug 25. Epilepsia Open. 2023. PMID: 37583270 Free PMC article.
RESULTS: Of 124 probands (60% boys, history of consanguinity in 15%) with genetic IESS, 105 had single gene disorders (104 nuclear and one mitochondrial), including one with concurrent triple repeat disorder (fragile X syndrome), and 19 had chromosomal disorders. Of 105 single ge …
RESULTS: Of 124 probands (60% boys, history of consanguinity in 15%) with genetic IESS, 105 had single gene disorders (104 nuclear and one m …
X-linked adrenoleukodystrophy: diagnostic and follow-up system in Japan.
Shimozawa N, Honda A, Kajiwara N, Kozawa S, Nagase T, Takemoto Y, Suzuki Y. Shimozawa N, et al. J Hum Genet. 2011 Feb;56(2):106-9. doi: 10.1038/jhg.2010.139. Epub 2010 Nov 11. J Hum Genet. 2011. PMID: 21068741 Review.
X-linked adrenoleukodystrophy (ALD) is an intractable neurodegenerative disease associated with the accumulation of very long-chain saturated fatty acids (VLCFA) in tissues and body fluids. ...There was no clear correlation between these mutations and phenotypes of …
X-linked adrenoleukodystrophy (ALD) is an intractable neurodegenerative disease associated with the accumulation of very long- …
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.
Anazi S, Maddirevula S, Faqeih E, Alsedairy H, Alzahrani F, Shamseldin HE, Patel N, Hashem M, Ibrahim N, Abdulwahab F, Ewida N, Alsaif HS, Al Sharif H, Alamoudi W, Kentab A, Bashiri FA, Alnaser M, AlWadei AH, Alfadhel M, Eyaid W, Hashem A, Al Asmari A, Saleh MM, AlSaman A, Alhasan KA, Alsughayir M, Al Shammari M, Mahmoud A, Al-Hassnan ZN, Al-Husain M, Osama Khalil R, Abd El Meguid N, Masri A, Ali R, Ben-Omran T, El Fishway P, Hashish A, Ercan Sencicek A, State M, Alazami AM, Salih MA, Altassan N, Arold ST, Abouelhoda M, Wakil SM, Monies D, Shaheen R, Alkuraya FS. Anazi S, et al. Mol Psychiatry. 2017 Apr;22(4):615-624. doi: 10.1038/mp.2016.113. Epub 2016 Jul 19. Mol Psychiatry. 2017. PMID: 27431290
Intellectual disability (ID) is a measurable phenotypic consequence of genetic and environmental factors. ...These included copy number variants in 14% (n=54, 15% are novel), and point mutations revealed by multi-gene panel and exome sequencing in the remaining 43% …
Intellectual disability (ID) is a measurable phenotypic consequence of genetic and environmental factors. ...These included co …
Clinical features of Danon disease and insights gained from LAMP-2 deficiency models.
Zhai Y, Miao J, Peng Y, Wang Y, Dong J, Zhao X. Zhai Y, et al. Trends Cardiovasc Med. 2023 Feb;33(2):81-89. doi: 10.1016/j.tcm.2021.10.012. Epub 2021 Nov 2. Trends Cardiovasc Med. 2023. PMID: 34737089 Review.
Danon disease (DD) is an X-linked multisystem disorder with clinical features characterized by the triad of hypertrophic cardiomyopathy, skeletal muscle weakness, and mental retardation. ...
Danon disease (DD) is an X-linked multisystem disorder with clinical features characterized by the triad of hypertrophic cardi …
Complex single gene disorders and epilepsy.
Merwick A, O'Brien M, Delanty N. Merwick A, et al. Epilepsia. 2012 Sep;53 Suppl 4:81-91. doi: 10.1111/j.1528-1167.2012.03617.x. Epilepsia. 2012. PMID: 22946725 Free article. Review.
Epilepsy is a heterogeneous group of disorders, often associated with significant comorbidity, such as intellectual disability and skin disorder. The genetic underpinnings of many epilepsies are still being elucidated, and we expect further advances over the coming …
Epilepsy is a heterogeneous group of disorders, often associated with significant comorbidity, such as intellectual disability …
Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes.
Lin L, Zhang Y, Pan H, Wang J, Qi Y, Ma Y. Lin L, et al. Orphanet J Rare Dis. 2020 Nov 11;15(1):317. doi: 10.1186/s13023-020-01599-y. Orphanet J Rare Dis. 2020. PMID: 33176815 Free PMC article.
BACKGROUND: Global developmental delay/intellectual disability (GDD/ID), used to be named as mental retardation (MR), is one of the most common phenotypes in neurogenetic diseases. ...In total, 111 pathogenic variants were found in 62 different genes among th …
BACKGROUND: Global developmental delay/intellectual disability (GDD/ID), used to be named as mental retardation (MR), is one o …
Utility of whole-exome sequencing for patients with multiple congenital anomalies with or without intellectual disability/developmental delay in East Asia population.
Hsu RH, Lee CH, Chien YH, Lin SP, Hung MZ, Chen NC, Lin YL, Hwu WL, Lee NC. Hsu RH, et al. Mol Genet Genomic Med. 2023 Jun;11(6):e2160. doi: 10.1002/mgg3.2160. Epub 2023 Feb 27. Mol Genet Genomic Med. 2023. PMID: 36849876 Free PMC article.
BACKGROUND: Congenital anomalies (CAs) with or without intellectual disability (ID)/developmental delay (DD) comprise a heterogeneous spectrum of diseases that affect approximately 3% of live births worldwide. ...Among the 16 positive cases, 13 (81%) also had …
BACKGROUND: Congenital anomalies (CAs) with or without intellectual disability (ID)/developmental delay (DD) comprise a hetero …
Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders.
Yamamoto T, Imaizumi T, Yamamoto-Shimojima K, Lu Y, Yanagishita T, Shimada S, Chong PF, Kira R, Ueda R, Ishiyama A, Takeshita E, Momosaki K, Ozasa S, Akiyama T, Kobayashi K, Oomatsu H, Kitahara H, Yamaguchi T, Imai K, Kurahashi H, Okumura A, Oguni H, Seto T, Okamoto N. Yamamoto T, et al. Brain Dev. 2019 Oct;41(9):776-782. doi: 10.1016/j.braindev.2019.05.007. Epub 2019 Jun 4. Brain Dev. 2019. PMID: 31171384
METHODS: Genomic analysis using next-generation sequencing with a targeted panel was performed for a total of 133 Japanese patients (male/female, 81/52) with previously undiagnosed neurodevelopmental disorders, including developmental delay (DD), intellectual dis …
METHODS: Genomic analysis using next-generation sequencing with a targeted panel was performed for a total of 133 Japanese patients (male/fe …
Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group.
de Vries BB, van den Ouweland AM, Mohkamsing S, Duivenvoorden HJ, Mol E, Gelsema K, van Rijn M, Halley DJ, Sandkuijl LA, Oostra BA, Tibben A, Niermeijer MF. de Vries BB, et al. Am J Hum Genet. 1997 Sep;61(3):660-7. doi: 10.1086/515496. Am J Hum Genet. 1997. PMID: 9326332 Free PMC article.
The fragile X syndrome is an X-linked mental retardation disorder caused by an expanded CGG repeat in the first exon of the fragile X mental retardation (FMR1) gene. Its frequency, X-linked inheritance, and consequences for relatives all prompt for dia …
The fragile X syndrome is an X-linked mental retardation disorder caused by an expanded CGG repeat in the first exon of the fr …
17 results